Rare Diseases under letter "R"
RAAS-blocker-induced angioedema ↗ RAAS-blocker-induced angioneurotic edema ↗ Rabies ↗ Rabson-Mendenhall syndrome ↗ RAD50 deficiency ↗ Radial clubhand ↗ Radial deficiency - tibial hypoplasia ↗ Radial hemimelia ↗ Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema ↗ Radial ray agenesis ↗ Radial ray hypoplasia - choanal atresia ↗ Radiation myelitis ↗ Radiation proctitis ↗ Radicular dentin dysplasia ↗ Radiculomegaly of canine teeth- congenital cataract ↗ Radio-digito-facial dysplasia ↗ Radio-renal syndrome ↗ Radio-ulnar synostosis ↗ Radio-ulnar synostosis - amegakaryocytic thrombocytopenia ↗ Radioulnar synostosis - intellectual deficit - hypotonia ↗ Radio-ulnar synostosis - retinal pigment abnormalities ↗ Radius absent - anogenital anomalies ↗ RAEB-1 ↗ RAEB-2 ↗ RAEB-t ↗ Raine syndrome ↗ Rajab-Spranger syndrome ↗ RALD ↗ Rambam-Hasharon syndrome ↗ Rambaud-Galian syndrome ↗ Ramon syndrome ↗ Ramos-Arroyo syndrome ?? ↗ Ramsay-Hunt syndrome ↗ Randall disease ↗ RAPADILINO syndrome ↗ Rapidly involuting congenital hemangioma ↗ Rapidly progressive glomerulonephritis ↗ Rapid-onset dystonia-parkinsonism ↗ RAPK ↗ Rapp-Hodgkin syndrome ↗ Rare adenocarcinoma of the breast ↗ Rare adenocarcinoma of the corpus uteri ↗ Rare benign ovarian tumor ↗ Rare cervical squamous cell carcinoma ↗ Rare deafness ↗ Rare endometriosis ↗ Rare squamous cell carcinoma of the cervix uteri ↗ RARS ↗ RAS-associated autoimmune lymphoproliferative disease ↗ Rasmussen-Johnsen-Thomsen syndrome ↗ Rasmussen subacute encephalitis ↗ Rasmussen syndrome ↗ Rat-bite fever ↗ Rathburn disease ↗ RAVINE syndrome ↗ Ray-Peterson-Scott syndrome ↗ RB-ILD ↗ RCAD syndrome ↗ RCC ↗ RCM3 ↗ RDEB generalisata gravis ↗ RDEB generalisata mitis ↗ RDEB, Hallopeau-Siemens type ↗ RDEB, non-Hallopeau-Siemens type ↗ Reactive amyloidosis ↗ Reactive arthritis ↗ Reardon-Baraitser syndrome ↗ Reardon-Hall-Slaney syndrome ↗ Rec(8) syndrome ↗ Recessive aplasia cutis congenita of limbs ↗ Recessive congenital methemoglobinemia type 1 ↗ Recessive congenital methemoglobinemia type 2 ↗ Recessive deafness-onychodystrophy ↗ Recessive hereditary methemoglobinemia type 1 ↗ Recessive hereditary methemoglobinemia type 2 ↗ Recessive intellectual disability - motor dysfunction - multiple joint contractures ↗ Recessive mitochondrial ataxic syndrome ↗ Recombinant 8 syndrome ↗ Recombinant chromosome 8 syndrome ↗ Rectal duplication ↗ Rectus abdominis syndrome ↗ Recurrent acute necrotizing encephalopathy ↗ Recurrent acute pancreatitis ↗ Recurrent hepatitis C virus induced liver disease in liver transplant recipients ↗ Recurrent infection due to specific granule deficiency ↗ Recurrent infections associated with rare immunoglobulin isotypes deficiency ↗ Recurrent infections - inflammatory syndrome due to zinc metabolism disorder ↗ Recurrent intrahepatic cholestasis of pregnancy ↗ Recurrent Neisseria infections due to factor D deficiency ↗ Recurrent respiratory papillomatosis ↗ Recurring digital fibrous tumor of childhood ↗ Red oculocutaneous albinism ↗ Red palms disease ↗ Reducing body myopathy ↗ Refetoff syndrome ↗ Reflex epilepsy ↗ Reflex sympathetic dystrophy ↗ Refractory anemia ↗ Refractory anemia with excess blasts ↗ Refractory anemia with excess blasts-1 ↗ Refractory anemia with excess blasts-2 ↗ Refractory anemia with excess blasts in transformation ↗ Refractory anemia with ringed sideroblasts ↗ Refractory cytopenia with multilineage dysplasia ↗ Refsum disease ↗ Reginato-Schiapachasse syndrome ↗ Regional odontodysplasia ↗ Regressive metaphyseal dysplasia ↗ Reinhardt-Pfeiffer mesomelic dysplasia ↗ Reinhardt-Pfeiffer syndrome ↗ Reiter's syndrome ↗ Rejection after corneal transplantation ↗ Relapsing epidemic thyphus ↗ Relapsing febrile nodular nonsuppurative panniculitis ↗ Relapsing febrile nodular panniculitis ↗ Relapsing fever ↗ Relapsing polychondritis ↗ Renal caliceal diverticuli - deafness ↗ Renal cell carcinoma ↗ Renal-coloboma syndrome ↗ Renal cysts and diabetes syndrome ↗ Renal cysts - maturity-onset diabetes of the young ↗ Renal dysfunction - early-onset diabetes ↗ Renal dysplasia ↗ Renal dysplasia - hepatic fibrosis - Dandy Walker malformation ↗ Renal dysplasia - limb defects ↗ Renal dysplasia - megalocystis - sirenomelia ↗ Renal dysplasia - mesomelia - radiohumeral fusion ↗ Renal dysplasia - retinal aplasia ↗ Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia ↗ Renal embryonic tumor ↗ Renal Fanconi syndrome with nephrocalcinosis and renal stones ↗ Renal-genital-middle ear anomalies ↗ Renal glucosuria ↗ Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts ↗ Renal hypomagnesemia type 2 ↗ Renal hypomagnesemia type 4 ↗ Renal hypoplasia ↗ Renal nutcracker syndrome ↗ Renal pseudohypoaldosteronism type 1 ↗ Renal tubular acidosis - anemia ↗ Renal tubular acidosis - deafness ↗ Renal tubular acidosis type 1 ↗ Renal tubular acidosis type 2 ↗ Renal tubular acidosis type 3 ↗ Renal tubular acidosis type 4 ↗ Renal tubular dysgenesis ↗ Renal tubular dysgenesis drugs-related ↗ Renal tubular dysgenesis due to twin-twin transfusion ↗ Renal tubular dysgenesis of genetic origin ↗ Renal tubulopathy - encephalopathy - liver failure ↗ REN-associated familial juvenile hyperuricemic nephropathy ↗ REN-associated FJHN ↗ REN-associated kidney disease ↗ Rendu-Osler disease ↗ Rendu-Osler-Weber disease ↗ Renier-Gabreels-Jasper syndrome ↗ Renin-angiotensin-aldosterone system-blocker-induced angioedema ↗ Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema ↗ Renpenning syndrome ↗ Resistance to IGF-1 ↗ Resistance to thyroid stimulating hormone ↗ Resistance to thyrotropin-releasing hormone syndrome ↗ Respiratory anthrax disease ↗ Respiratory bronchiolitis - interstitial lung disease ↗ Reticular dysgenesis ↗ Reticular dystrophy of the retinal pigment epithelium ↗ Reticular perineurioma ↗ Reticular pigment anomaly of flexures ↗ Reticulate acropigmentation of Kitamura ↗ Reticulum cell sarcoma ↗ Retinal arteries tortuosity ↗ Retinal arteriolar tortuosity ↗ Retinal arteriolar tortuosity - infantile hemiparesis - autosomal dominant leukoencephalopathy ↗ Retinal cavernous hemangioma ↗ Retinal degeneration - nanophthalmos - glaucoma ↗ Retinal detachment - occipital encephalocele ↗ Retinal dystrophy ↗ Retinal hemorrhage with vascular tortuosity ↗ Retinitis pigmentosa ↗ Retinitis pigmentosa and intellectual deficit due to del(X)(p11.3) ↗ Retinitis pigmentosa and intellectual deficit due to monosomy Xp11.3 ↗ Retinitis pigmentosa and intellectual deficit due to Xp11.3 microdeletion ↗ Retinitis pigmentosa - deafness ↗ Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia ↗ Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism ↗ Retinitis punctata albescens ↗ Retinoblastoma ↗ Retinohepatoendocrinologic syndrome ↗ Retinoic acid embryopathy ↗ Retinoids embryopathy ↗ Retinopathy - anemia- central nervous system anomalies ↗ Retinopathy, Burgess-Black type ↗ Retinopathy of prematurity ↗ Retinoschisis with early hemeralopia ↗ Retrocerebellar cyst ↗ Retroperitoneal fibrosis ↗ Rett syndrome ↗ Rett syndrome variant ↗ Reunion, Anorexia, Vomiting which is Irrepressible, and NEurological signs ↗ Revesz-Debuse syndrome ↗ Reye's syndrome ↗ Reye tumor ↗ Reynolds syndrome ↗ RGNT ↗ Rhabdoid tumor ↗ Rhabdomyomatous dysplasia - cardiopathy - genital anomalies ↗ Rhabdomyosarcoma ↗ Rhabdomyosarcoma of the cervix uteri ↗ Rhabdomyosarcoma of the corpus uteri ↗ Rh deficiency syndrome ↗ Rheumatic fever ↗ Rheumatoid purpura ↗ Rhizomelic chondrodysplasia punctata ↗ Rhizomelic dysplasia, Patterson-Lowry type ↗ Rhizomelic pseudopolyarthritis ↗ Rhizomelic syndrome ↗ Rh-null syndrome ↗ Rhombencephalosynapsis ↗ RHS ↗ RHYNS syndrome ↗ RICH ↗ Richardson's syndrome ↗ Richards-Rundle syndrome ↗ Richieri-Costa-Colletto syndrome ↗ Richieri Costa-da Silva syndrome ↗ Richieri-Costa-Gorlin syndrome ↗ Richieri Costa-Guion Almeida-Cohen syndrome ↗ RichieriCosta-GuionAlmeida-Ramos syndrome ↗ Richieri Costa-Guion Almeida-Rodini syndrome ↗ Richieri Costa-Guion Almeida syndrome ↗ Richieri Costa-Pereira syndrome ↗ Richner-Hanhart syndrome ↗ Ricker disease ↗ Ricker syndrome ↗ Rickettsialpox ↗ RI-CMT type A ↗ RI-CMT type B ↗ Riedel thyroiditis ↗ Rieger anomaly ↗ Rieger anomaly - partial lipodystrophy ↗ Rieger-Axenfeld anomaly ↗ Rieger syndrome ↗ Right aortic arch ↗ Right inferior caval vein connecting to left-sided atrium ↗ Right inferior vena cava connecting to left-sided atrium ↗ Right IVC connecting to left-sided atrium ↗ Right superior caval vein connecting to left-sided atrium ↗ Right superior vena cava connecting to left-sided atrium ↗ Right SVC connecting to left-sided atrium ↗ Right ventricular hypoplasia ↗ Rigid spine syndrome ↗ Riley-Day syndrome ↗ Ring chromosome 1 ↗ Ring chromosome 10 ↗ Ring chromosome 11 ↗ Ring chromosome 12 ↗ Ring chromosome 13 ↗ Ring chromosome 14 ↗ Ring chromosome 15 ↗ Ring chromosome 16 ↗ Ring chromosome 17 ↗ Ring chromosome 18 ↗ Ring chromosome 19 ↗ Ring chromosome 2 ↗ Ring chromosome 20 ↗ Ring chromosome 21 ↗ Ring chromosome 22 ↗ Ring chromosome 3 ↗ Ring chromosome 4 ↗ Ring chromosome 5 ↗ Ring chromosome 6 ↗ Ring chromosome 7 ↗ Ring chromosome 8 ↗ Ring chromosome 9 ↗ Ring chromosome Y ↗ Ring dermoid of cornea ↗ Ring dermoid syndrome ↗ Ringed hair disease ↗ Rippberger-Aase syndrome ↗ Rippling muscle disease ↗ Rippling muscle disease with myasthenia gravis ↗ Ritscher-Schinzel syndrome ↗ Rivera-Perez-Salas syndrome ↗ River blindness ↗ RNF135-related overgrowth syndrome ↗ RNS ↗ Roberts-SC phocomelia syndrome ↗ Roberts syndrome ↗ Robinow dwarfism ↗ Robinow-like syndrome ↗ Robinow-Silverman-Smith syndrome ↗ Robinow-Sorauf syndrome ↗ Robinow syndrome ↗ Robinow-Unger syndrome ↗ Robin sequence - oligodactyly ↗ Roch-Leri mesosomatous lipomatosis ↗ Rocker-bottom foot ↗ Rocky Mountain spotted fever ↗ Rodini-Richieri Costa syndrome ↗ Rod myopathy ↗ Rogers syndrome ↗ Roifman-Melamed syndrome ↗ Rokitansky sequence ↗ Rokitansky syndrome ↗ Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp ↗ Rolandic epilepsy - speech dyspraxia ↗ Rolled and spiral hairs - palmoplantar keratoderma ↗ Romano-Ward syndrome ↗ Rombo syndrome ↗ Rommen-Mueller-Sybert syndrome ↗ Roothless teeth ↗ Rosaï-Dorfman disease ↗ Rosenberg-Lohr syndrome ↗ Rosenthal factor deficiency ↗ Rosenthal syndrome ↗ Rosette-forming glioneuronal tumour of the fourth ventricule ↗ Rosselli-Gulienetti syndrome ↗ Rothmund-Thomson syndrome ↗ Rothmund-Thomson syndrome type 1 ↗ Rothmund-Thomson syndrome type 2 ↗ Rotor syndrome ↗ Round-cell liposarcoma ↗ Round-headed spermatozoa ↗ Roussy-Levy syndrome ↗ Rozin-camptodactyly syndrome ↗ Rozin-Hertz-Goodman syndrome ↗ RPGN ↗ RRS ↗ RSH syndrome ↗ RTS ↗ RTS1 ↗ RTS2 ↗ Rubella panencephalitis ↗ Rubinstein-Taybi syndrome ↗ Rudd-Klimek syndrome ↗ Rudiger syndrome ↗ Rufous oculocutaneous albinism ↗ Russell-Weaver-Bull syndrome ↗ Rutherfurd syndrome ↗ Ruvalcaba syndrome ↗ r(Y) ↗